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Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Abstract

Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Center for Human Genetics, University of Leuven, Belgium.

    , , , ,

    Source

    Clinical genetics 46:3 1994 Sep pg 257-9

    MeSH

    Abnormalities, Multiple
    Arm
    Chromosomes, Human, Pair 14
    DNA
    Genetic Linkage
    Heart Defects, Congenital
    Humans
    Lod Score
    Pedigree
    Syndrome

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    7820941

    Citation

    Ruiz, J C., et al. "Exclusion of Linkage to 14q23-24 in a Family With Holt-Oram Syndrome." Clinical Genetics, vol. 46, no. 3, 1994, pp. 257-9.
    Ruiz JC, Legius E, Cuppens H, et al. Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. Clin Genet. 1994;46(3):257-9.
    Ruiz, J. C., Legius, E., Cuppens, H., Moens, P., Marynen, P., & Cassiman, J. J. (1994). Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. Clinical Genetics, 46(3), pp. 257-9.
    Ruiz JC, et al. Exclusion of Linkage to 14q23-24 in a Family With Holt-Oram Syndrome. Clin Genet. 1994;46(3):257-9. PubMed PMID: 7820941.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. AU - Ruiz,J C, AU - Legius,E, AU - Cuppens,H, AU - Moens,P, AU - Marynen,P, AU - Cassiman,J J, PY - 1994/9/1/pubmed PY - 1994/9/1/medline PY - 1994/9/1/entrez SP - 257 EP - 9 JF - Clinical genetics JO - Clin. Genet. VL - 46 IS - 3 N2 - Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/7820941/Exclusion_of_linkage_to_14q23_24_in_a_family_with_Holt_Oram_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1994&volume=46&issue=3&spage=257 DB - PRIME DP - Unbound Medicine ER -